My day today
Warning: heavy blog post coming!
OK, back to work today, well, for part of the day. For the benefit of those just catching up with me now, I've been off work for a mix of reasons. I am back today (Tuesday) to work 1245-2045. However, first things first. In the morning, was attending a meeting about something I'd witnessed last week - although I cannot go into any more detail.
I stopped off at home before heading for an appointment at Ninewells Hospital this afternoon, at the genetics clinic. Several of you will know my dad had been somewhat degenerating as a result of a genetic disorder called Huntington's Disease (HD). In the early-mid 90's, my mother denied this, although I still remember the day she admitted to me that this was the case (I was in the middle of being illegally shafted by the landlord, and late for work, but these things only ever happen once). Now, over the last few years, it has been somewhat disturbing to see the totally involuntary changes in him, and last year he was admitted to a nursing home (he is 53 or 54 now I think). This generally happens over 10-15 years, which caused me the most concern - there is nothing that can be done to change it, little to relive it. If you've got it, you've got it. There is no cure.
So why has this come to a hilt today? Well, the problems causing me inconvenience over the last few years resulted in me being referred to both Urology and Neurology, in the year after I returned to Dundee from London. Those five weeks I had in North Middlesex Hospital did not find anything. It was just by chance that I happened to mention my father's condition to the neurological specialist. While they have still never found what caused that, they had been somewhat surprised that no-one had mentioned this at the time, and I mentioned the way my mother tried to avoid the subject. I discussed with them how I could find out for certain - it's a 50/50 chance - and it would appear with the way I am right now i.e. not badly ill, it's maybe marginally better. I've been working on the "worst case" scenario for a few years now, and I wanted to know. Of course you never know when this will take over your life, but you can get a general idea of how bad it will be by the results of the test. If someone positive with this has children, it's a 50/50 case they will pass it on. If it's negative, there is no immediate risk. This is somewhat less likely to occur to me directly (think about it) but never say never, and there are other members of my family to think of as well. The upshot of this afternoon is that they are doing a few checks with those who are seeing me medically for other reasons, and will revert to me in a few weeks, giving me the chance to be tested for it, or to postpone it. If I go ahead, it's 2-4 weeks before you get results, on a fixed date, whether you are in the positive or negative.
So why do I want to know? It might well change my plans for what else to do in other things. While some people say you should never ask a lady her age, I've already blogged that I am 26, so now you know. Allowing the next few years for other things, this leaves me my thirties - exactly the time this starts to progress. I would much rather know now, and this would allow me to plan my life accordingly. If ending up in a similar state is likely, short term enjoyment would be more important than long term planning. At the moment, there are a lot of things I do - i.e. work, dbb, web, blog, photos, travel, chat, travel information, etc. There are other things I would like to do over the coming years, allowing me to develop into the person I should be.
Call me mad if you like, but I'd like to know. It's going to either confirm what I already know, or, a negative could potentially seriously improve my prospects for coming years.
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From the HDA website at http://www.hda.org.uk
"Huntington's disease, which is often called HD, is an hereditary disorder of the central nervous system. It used to be known as Huntington's Chorea or HC. Huntington's disease usually develops in adulthood and can cause a very wide range of symptoms. The disease affects both men and women.
Huntington's disease is caused by a faulty gene on chromosome 4. The gene, which produces a protein called Huntingtin, was discovered in 1993.
In some way - which is not yet understood - the faulty gene leads to a damage of the nerve cells in areas of the brain, including the the basal ganglia and cerebral cortex.
This leads to gradual physical, mental and emotional changes.
Each person whose parent has Huntington's disease is born with a 50-50 chance of inheriting the faulty gene. Anyone who inherits the faulty gene will, at some stage, develop the disease. A genetic test is available from Regional Genetic Clinics throughout the country. This test will usually be able to show whether someone has inherited the faulty gene, but it will not indicate the age at which they will develop the disease.
The symptoms of Huntington's disease usually develop when people are between 30-50 years old, although they can start much earlier or much later. The symptoms can also differ from person to person, even in the same family."
--------------------------------------------------------------------------
Right, after probably one of the most revealing blogs I shall ever do, it was good to get a few hours at least at work today. I enjoyed meeting everyone again - haven't we been here this time last year??? Well, nothing had changed, although a handful of you say I am still losing weight... I promise you, it's those trousers again...
Thanks for reading this far.
love to you all
Suzy xxx
OK, back to work today, well, for part of the day. For the benefit of those just catching up with me now, I've been off work for a mix of reasons. I am back today (Tuesday) to work 1245-2045. However, first things first. In the morning, was attending a meeting about something I'd witnessed last week - although I cannot go into any more detail.
I stopped off at home before heading for an appointment at Ninewells Hospital this afternoon, at the genetics clinic. Several of you will know my dad had been somewhat degenerating as a result of a genetic disorder called Huntington's Disease (HD). In the early-mid 90's, my mother denied this, although I still remember the day she admitted to me that this was the case (I was in the middle of being illegally shafted by the landlord, and late for work, but these things only ever happen once). Now, over the last few years, it has been somewhat disturbing to see the totally involuntary changes in him, and last year he was admitted to a nursing home (he is 53 or 54 now I think). This generally happens over 10-15 years, which caused me the most concern - there is nothing that can be done to change it, little to relive it. If you've got it, you've got it. There is no cure.
So why has this come to a hilt today? Well, the problems causing me inconvenience over the last few years resulted in me being referred to both Urology and Neurology, in the year after I returned to Dundee from London. Those five weeks I had in North Middlesex Hospital did not find anything. It was just by chance that I happened to mention my father's condition to the neurological specialist. While they have still never found what caused that, they had been somewhat surprised that no-one had mentioned this at the time, and I mentioned the way my mother tried to avoid the subject. I discussed with them how I could find out for certain - it's a 50/50 chance - and it would appear with the way I am right now i.e. not badly ill, it's maybe marginally better. I've been working on the "worst case" scenario for a few years now, and I wanted to know. Of course you never know when this will take over your life, but you can get a general idea of how bad it will be by the results of the test. If someone positive with this has children, it's a 50/50 case they will pass it on. If it's negative, there is no immediate risk. This is somewhat less likely to occur to me directly (think about it) but never say never, and there are other members of my family to think of as well. The upshot of this afternoon is that they are doing a few checks with those who are seeing me medically for other reasons, and will revert to me in a few weeks, giving me the chance to be tested for it, or to postpone it. If I go ahead, it's 2-4 weeks before you get results, on a fixed date, whether you are in the positive or negative.
So why do I want to know? It might well change my plans for what else to do in other things. While some people say you should never ask a lady her age, I've already blogged that I am 26, so now you know. Allowing the next few years for other things, this leaves me my thirties - exactly the time this starts to progress. I would much rather know now, and this would allow me to plan my life accordingly. If ending up in a similar state is likely, short term enjoyment would be more important than long term planning. At the moment, there are a lot of things I do - i.e. work, dbb, web, blog, photos, travel, chat, travel information, etc. There are other things I would like to do over the coming years, allowing me to develop into the person I should be.
Call me mad if you like, but I'd like to know. It's going to either confirm what I already know, or, a negative could potentially seriously improve my prospects for coming years.
--------------------------------------------------------------------------
From the HDA website at http://www.hda.org.uk
"Huntington's disease, which is often called HD, is an hereditary disorder of the central nervous system. It used to be known as Huntington's Chorea or HC. Huntington's disease usually develops in adulthood and can cause a very wide range of symptoms. The disease affects both men and women.
Huntington's disease is caused by a faulty gene on chromosome 4. The gene, which produces a protein called Huntingtin, was discovered in 1993.
In some way - which is not yet understood - the faulty gene leads to a damage of the nerve cells in areas of the brain, including the the basal ganglia and cerebral cortex.
This leads to gradual physical, mental and emotional changes.
Each person whose parent has Huntington's disease is born with a 50-50 chance of inheriting the faulty gene. Anyone who inherits the faulty gene will, at some stage, develop the disease. A genetic test is available from Regional Genetic Clinics throughout the country. This test will usually be able to show whether someone has inherited the faulty gene, but it will not indicate the age at which they will develop the disease.
The symptoms of Huntington's disease usually develop when people are between 30-50 years old, although they can start much earlier or much later. The symptoms can also differ from person to person, even in the same family."
--------------------------------------------------------------------------
Right, after probably one of the most revealing blogs I shall ever do, it was good to get a few hours at least at work today. I enjoyed meeting everyone again - haven't we been here this time last year??? Well, nothing had changed, although a handful of you say I am still losing weight... I promise you, it's those trousers again...
Thanks for reading this far.
love to you all
Suzy xxx
posted by Suzy Scott @ 23:49
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